Related Experiment Video
Updated: Aug 8, 2026
06:51
A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
Genotype-directed Targeted Therapy for Pediatric Vascular Malformations: A Systematic Review
Bitesh Kumar1, Nidhi Patil1, Prabudh Goel1
1Department of Pediatric Surgery, AIIMS, New Delhi, India.
Journal of Indian Association of Pediatric Surgeons
|August 7, 2026
Summary
Targeted therapies show promise for pediatric vascular malformations driven by specific gene mutations. These treatments offer clinical benefits and manageable side effects, but further research is needed.
Area of Science:
- Genetics and Molecular Biology
- Pediatric Oncology
- Dermatology
Background:
- Pediatric vascular malformations are rare, complex disorders.
- Somatic mutations in PI3K-AKT-mTOR and RAS-MAPK pathways are key drivers.
- Genomic profiling advances enable targeted therapies, but evidence is fragmented.
Purpose of the Study:
- To systematically review clinical outcomes and safety.
- Focus on genotype-directed targeted systemic therapies.
- In pediatric patients with genetically characterized vascular malformations.
Main Methods:
- Systematic literature search (PubMed, Embase, Scopus).
- Included case reports, series, cohort studies, prospective investigations (0-18 years).
- Extracted data on genetics, therapies, outcomes, and adverse events.
Main Results:
- Fifty-two studies analyzed, involving neonates to 18-year-olds.
- PIK3CA and RAS pathway mutations were common.
- Sirolimus, alpelisib, trametinib were frequently used.
- Many patients showed clinical improvement and radiologic stabilization.
- Severe adverse events were uncommon and manageable.
Conclusions:
- Genotype-directed therapies offer clinical and radiologic benefits.
- Safety profiles appear acceptable.
- Evidence largely from observational studies; prospective validation needed.
Related Concept Videos
00:59Gene Therapy
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
01:10Mechanism of Angiogenesis
Blood vessel formation starts early during embryonic development, around day 7. In the extraembryonic yolk sac, mesodermal precursor cells called hemangioblast proliferate and differentiate into angioblast. Angioblasts express vascular endothelial growth factor receptor 2 or VEGFR2, which binds VEGF-A, a proangiogenic factor, guiding blood vessel formation. VEGF signaling promotes angioblasts to form a blood island in the developing embryo. Angioblasts further differentiate, giving rise to...
02:57Targeted Cancer Therapies
The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against specific...
There are several types of targeted therapies against specific...
01:20Overview of the Vascular System
The vascular system comprises an extensive network of arteries, capillaries, and veins. The vascular system can be broadly divided into the blood and lymphatic systems. Typically, blood vessels can be categorized into three histological regions: tunica intima, tunica media, and tunica adventitia. The tunica intima consists of a single layer of endothelial cells attached to the basal lamina. Underlying the basal lamina is a connective tissue layer and an elastic lamina that gives stability and...